Perinatal Conditions We Diagnose & Treat

Nemours Partners for Perinatal Management at Nemours/Alfred I. duPont Hospital for Children

Comprehensive, Specialized Care for Perinatal Conditions

Our experienced team has been providing perinatal (fetal) testing and consultations for more than a decade — and we can care for virtually any medical condition after delivery. Below are some of the more common congenital (present at birth) conditions and birth defects that can be diagnosed during pregnancy through the Nemours Partners for Perinatal Management, and treated after birth at the Nemours/Alfred I. duPont Hospital for Children.

Congenital Heart Disease & Heart Rhythm Disorders

Our cardiologists at the Nemours Cardiac Center perform in-depth cardiac ultrasounds (fetal echocardiography or “fetal echos"), which allow us to view the structure, function and rhythm of a baby’s heart while still in the mother’s womb. The Nemours Cardiac Center provides advanced cardiac care, from first-class open-heart surgery to progressive nonsurgical approaches.

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Craniofacial Disorders (Cleft Lip & Palate)

Clefts of the lip and palate are the most common craniofacial anomalies. Vascular lesions and head and neck tumors can usually also be diagnosed in utero (during pregnancy). With a nurse coordinator serving as a guide and resource for every family, our comprehensive Cleft and Craniofacial team has more than 60 years of experience and expertise in caring for children with conditions affecting the head and face.Learn More About Cleft & Craniofacial Anomalies »

General (Pediatric) Surgical Disorders

Many congenital problems involving the abdomen and chest can be diagnosed before birth and surgically treated once your baby is born. Our nationally renowned, senior-level surgeons are certified by the American Board of Surgery with special competence in pediatric surgery. We aggressively pursue national patient safety goals/initiatives, resulting in quality, safety and mortality rates that are among the best in the country.

Conditions we commonly see include:

Anorectal Malformation

An anorectal malformation is caused by a defect in the way the lower portion of the intestinal and urogenital (urinary tract/reproductive system) tracts develop. Nemours surgeons and specialists provide expert early diagnosis and treatment, using the most advanced technologies available.Learn More About Anorectal Malformations »

Bowel Atresia

When a child is born with an atresia, it means that a valve is missing or tube is closed off. With bowel atresia (also sometimes called "small bowel atresia" or "intestinal atresia"), this interrupts the normal flow of waste, which can lead to a number of complications. Bowel atresias will require prompt care by our experienced surgeons in the first few days after birth.

From Medscape

A congenital cystic adenomatoid malformation (or "CCAM") is a lesion (cyst or lump) that's present on the lungs when a baby is born. CCAMs are benign (noncancerous), but can cause problems and can become cancerous growths if they aren't treated. Our experienced surgeons can provide a timely diagnosis and treatment to avoid future problems.

From Medscape

A congenital diaphragmatic hernia is a defect in the diaphragm, a thin sheet of muscle that separates the lungs and heart from the stomach and other organs. Babies born with a diaphragmatic hernia often have difficulty breathing, so they will need advanced treatment in our Neonatal Intensive Care Unit (NICU), followed by surgery once breathing improves.

From the U.S. Library of Medicine's MedlinePlus

Conjoined twins' skin and organs or bones are fused together during fetal development. Conjoined twins, which are always the same gender and identical, are rare. There are many different types of conjoined twins (which differ depending on where the twins are joined). Whatever type, conjoined twins require intensive care and surgery after birth.

Conjoined twins Conner and Carter were successfully separated by a team of Nemours specialists and surgeons in Delaware and Florida.Meet Conner & Carter »

Gastroschisis

Gastroschisis is a birth defect of the abdominal (belly) wall that causes part of a baby’s intestines and sometimes other organs (e.g., the liver and stomach) to stick out of the body. Nemours’ highly skilled surgeons will perform an operation soon after birth to put the organs back into the body. Most babies with gastroschisis recover after treatment and go on to lead normal lives.

From the Centers for Disease Control and Prevention

Masses and cysts of the abdomen and chest require individualized treatment strategies. These may involve early intervention or delayed surgery, or they may resolve over time. Whatever your baby needs, we'll be there to monitor the condition and offer any necessary medical and/or surgical care.

Omphalocele

Omphalocele is a defect in the abdominal (belly) wall that causes the intestines and other abdominal organs to protrude due to a hole in the belly button area. Babies with omphalocele usually completely recover after surgery, although children with this defect are often born with other problems as well. Nemours’ highly skilled surgeons can help you understand your baby’s condition and provide expert surgical treatment as soon as your baby is born.

From the U.S. National Library of Medicine’s MedlinePlus

Selective intrauterine growth restriction (sIUGR) is a condition that occurs in monochorionic twins (twins that share a single placenta). With sIUGR, the shared placenta during pregnancy isn't evenly distributed between the twins. That means one of the twins' growth and nourishment are restricted, affecting that twin's weight and overall health.

From Nemours' KidsHealth

Neurologic & Neurosurgical Disorders

Our experienced pediatric neurology and neurosurgery teams use advanced technologies to diagnose and treat children with a wide range of conditions and injuries of the skull, brain and spine (central nervous system, or “CNS”), and the peripheral nervous system, or “PNS” (nerves that connect the CNS to the rest of the body).

Conditions we commonly see include:

Agenesis (or Absence) of the Corpus Callosum

Agenesis of the corpus callosum (ACC) is a birth defect in which the structure connecting the two hemispheres of the brain (called the "corpus callosum") is partially or completely absent. Babies born with ACC may have other defects as well. The effects of the disorder can range from mild to severe. Our Nemours neurologists will work with you to manage your baby's symptoms.

From the National Institute of Neurological Disorders and Stroke

A choroid plexus cyst is a tiny, blister-like bubble of fluid that's created during the formation of the choroid plexus (the part of the brain that makes cerebrospinal fluid). Usually, the cyst goes away on its own with no problems. Sometimes, though, a small percentage of fetuses with choroid plexus cysts may have a chromosome disorder called "trisomy 18." Our team of specialists will work with you and your family as soon as you have a diagnosis so you can know what to expect.

Dandy-Walker

Dandy-Walker syndrome is a rare condition that affects a child’s brain development, particularly the cerebellum, which coordinates movement. In children with Dandy-Walker, malformations in the brain can cause developmental delays/movement and coordination problems, intellectual differences, other neurological issues and other problems (such as hydrocephalus, hearing and vision difficulties). Our team of specialists can properly diagnose the condition and create a comprehensive, individualized plan of care that addresses all of your baby’s needs after birth.

From the National Library of Medicine's Genetics Home Reference

Encephalocele is a rare neural tube defect (a birth defect involving incomplete development of the brain and spinal cord) in which brain tissue protrudes out of the skin from an abnormal opening in the skull. Encephaloceles happen during the first 28 days of pregnancy.

From the Centers for Disease Control and Prevention

Babies with hydrocephalus and spina bifida often need immediate attention after birth. Hydrocephalus is a condition that involves increased pressure in the brain due to too much cerebrospinal fluid (the clear, watery fluid that surrounds and cushions the brain and spinal cord). Spina bifida (also called “myelomeningocele”) is a congenital condition that involves the incomplete development of the spinal cord or its coverings.

With spina bifida, neurosurgeons move the spine back into the vertebrae and close the hole to prevent infection and protect the spine. Treatment for hydrocephalus has typically involved placement of a ventriculoperitoneal shunt. Now, endoscopic third ventriculostomy (ETV) is becoming an increasingly common treatment. Surgeons create a small opening in the bottom of the third ventricle to allow fluid to exit the brain. This minimally invasive approach enables the large majority of children with spina bifida to avoid shunts and the difficult issues around shunt management and follow-up. Today’s options are even further expanded with the addition of a unique technique that combines ETV and choroid plexus cauterization (CPC).

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Ventriculomegaly is a condition in which the brain's cerebrospinal-fluid-filled brain cavities and tunnels (called the "lateral ventricles") are too big. We'll work with you to get a detailed diagnosis and determine if your baby has any other problems as well. After birth, our neurology specialists will manage your child's symptoms and help you understand your child's condition and what to expect.

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Ophthalmic (Eye) Disorders

Our ophthalmologists are pioneers in diagnosing ophthalmic disorders in utero. When there are abnormal findings on prenatal ultrasound and/or a family history of certain ophthalmic disorders, we perform consultations and come up with a plan of care for after your baby's birth.

Conditions we commonly see include:

Congenital Cataracts

Congenital cataracts cause cloudiness or opacity (whiteness) in the normally clear lens of a baby’s eye and can affect the entire lens, or a very small portion. Nemours' pediatric ophthalmologists are experienced in diagnosing cataracts in children and babies (even while still in the womb), and performing advanced pediatric cataract surgery when necessary.Learn More About Congenital Cataracts »

Congenital Cysts of the Eye and Orbit

Sometimes babies are born with congenital cysts on the eye or orbit (the eye socket, where the eyeball sits). A cyst is a sac that's filled with air, liquid or pus.

Dacrocystocele

Dacrocystocele (also called "dacryocele") is an obstruction in the tear duct that causes fluid to build up, leaving a benign (non-cancerous) bluish mass or swelling just below the eye. The condition can cause infection and/or make it difficult for the baby to breathe or breastfeed. Our experienced ophthalmologists can diagnose the problem and quickly treat it after birth.

Retinoblastoma

Retinoblastoma is a malignant (cancerous) tumor that grows in the retina — the light-sensing part of the eye that sends the images we see to the brain. At Nemours, retinoblastomas are cared for in conjunction with oncologists and ocular oncologists.Learn More About Retinoblastoma »

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Orthopedic Disorders

Many orthopedic conditions are associated with other system abnormalities, especially heart and kidney problems. If we discover one of these issues, we look for others. Originally devoted only to pediatric orthopedics, Nemours/Alfred I. duPont Hospital for Children has been a distinguished leader in the field since 1940. Today, our orthopedics department is renowned in our region, across the nation and around the world.

Conditions we commonly see include:

Clubfoot

Most babies born with clubfoot have a congenital abnormality that causes one or both feet to turn inward and downward. For the majority of children, clubfoot is almost completely correctable without major surgery or pain. Nemours’ orthopedic specialists use the Ponseti method, the most effective and least expensive treatment for congenital clubfoot, to gently and safely stretch your child’s foot or feet into the correct forward-facing position using casts and, later, orthotics (braces).Learn More About Clubfoot »

Hand Differences

During fetal (in the womb) development, a baby’s hands may not form correctly. Our pediatric orthopedic surgeons can help children with hand defects such as polydactyly (extra fingers), syndactyly (joining of the fingers), symbrachydactyly (short and absent fingers), thumb duplication (extra thumb), thumb hypoplasia (underdeveloped thumb), radial club hand (underdeveloped forearm structures on the side of the thumb) and ulnar club hand (underdeveloped forearm structures on the side of the pinky). Nemours’ world-renowned surgeons have special training in hand, upper extremity and microvascular surgery (surgery on very small blood vessels) which allows them to provide the most precise advice and treatment.Learn More About Hand Differences »

Limb Differences (Upper and Lower)

Our Limb Length Discrepancy Program helps children with a limb deformity or an unequal limb length. Working as a team of specialists, we diagnose and correct limb inequalities using advanced, nonsurgical treatments (such as physical medicine and rehabilitation) and state-of-the-art, minimally invasive limb lengthening surgical procedures and limb reconstruction.Learn More About Limb Differences »

Osteogenesis Imperfecta (OI)

Children born with the genetic disorder osteogenesis imperfecta (or “OI,” also known as “brittle bone disease”) have bones that break easily, often from little or no apparent cause. Because osteogenesis imperfecta can affect your child in many ways, at Nemours OI program, you’ll have access to an entire team of Nemours specialists.Learn More About Osteogenesis Imperfecta »

Skeletal Dysplasia (Dwarfism)

The skeletal dysplasias are a group of conditions characterized by abnormalities in the growth, development, shape or integrity of the bones and cartilage. They can lead to a wide variety of medical problems, but the most common feature among them is dwarfism (defined as having a final adult height below 4' 10"). Only about a half-dozen clinics in the country treat children with skeletal dysplasia. Our reputation for diagnosing and treating even the toughest cases has made us a favorite among families around the globe.Learn More About Skeletal Dysplasia »

Spine (Neural Tube) Defects

Spine defects (often called "neural tube defects") affect the brain, spine or spinal cord. These include spina bifida (in which the baby's spine doesn't close completely), anencephaly (when most of the brain and skull doesn't develop), meningoceles (an incomplete spinal canal) and Chiari malformation (when the brain tissue extends into the spinal canal). Spine defects have a range of symptoms, and surgery is usually needed in a baby's first few days to close the spinal cord and/or relieve the buildup of brain fluid. Most children will require lifelong treatment and many will have learning problems, movement and seizure disorders. Our orthopedic and neurology specialists and surgeons work together to manage spine defects.

From the U.S. National Library of Medicine's MedlinePlus

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Urologic & Nephrologic Disorders

Many urologic problems (conditions affecting the kidneys, ureter, bladder, urethra, penis and testes) can be diagnosed in the womb. Our team of specially trained pediatric urologists and nephrologists in our full urology and nephrology perinatal clinic offers comprehensive evaluation and treatment of many urologic conditions and genital abnormalities using state-of-the-art technology, including minimally invasive techniques.

Conditions we commonly see include:

Ambiguous Genitalia

Ambiguous genitalia are birth defects in which the outer genitals don't have the normal appearance of either a boy or a girl. Depending on the specific cause, we may recommend surgery, hormone replacement or other treatments.

From the U.S. National Library of Medicine's MedlinePlus

Bladder exstrophy is a birth defect in which the bladder is improperly formed and is exposed outside of the baby's body. Babies with bladder exstrophy will need surgery to securely close the bladder and close up that area of the body. Further procedures to reconstruct neighboring bones and muscles may also be needed.

From the Urology Care Foundation

A duplicated (or "duplex collecting") system is when a child has two ureters draining a single kidney (instead of the usual one ureter per kidney). If the extra ureter's connection is formed properly, there's no problem. But if it doesn't connect properly, the urine can drain into your child's body cavity (known as "ectopic ureter"). In this case, surgery is necessary.

From the Urology Care Foundation

Horseshoe kidney (also called “renal fusion”) is a condition in which the two kidneys are fused (connected) into one arched kidney that usually functions normally, but is more prone to develop problems later in life. An uncomplicated horseshoe kidney doesn’t need medical or surgical treatment, but it does need to be checked regularly by doctors.

From the Urology Care Foundation

Fetal hydronephrosis is an enlargement of one or both kidneys that may be caused by an obstruction or by vesicoureteral reflux (in which urine abnormally flows backward, or refluxes, from the bladder into the ureters) in the developing urinary tract. In some cases, the condition simply requires ongoing monitoring or medication; in others, surgery may be necessary after delivery to clear the obstruction from the urinary tract.

In some infants, the tube that connects the kidney and bladder may be too wide. This situation often has complications, such as a kink in the ureter that blocks flow or reflux that causes backflow. These problems can cause infections and kidney damage if they aren't surgically corrected.

From the Urology Care Foundation

Multicystic dysplastic kidney (also known as “renal dysplasia” or “kidney dysplasia”) is a condition in which one or both of a baby's kidneys develop abnormally in the womb, often causing cysts (fluid-filled sacs) to replace normal kidney tissue. Whereas polycystic kidney disease always affects both kidneys, multicystic dysplastic kidney usually affects just one kidney. Fortunately, the unaffected kidney takes over and most children with multicystic dysplastic kidney will have normal kidney function.

From Nemours’ KidsHealth

A pelvic kidney is a birth defect in which the kidney is abnormally located within the pelvic (hip) area. If urinary function is normal and the doctor finds no blockage, no treatment is needed. But a blocked pelvic kidney can cause urinary problems, infection, urinary stones and kidney failure. In this case, children need surgery to correct the position of the kidney, open the blockage, or even remove the kidney if it's extensively damaged. (People can live normal lives with just one kidney.)

From the Kidney & Urology Foundation of America, Inc.

Polycystic kidney disease (PKD) is a condition in which many fluid-filled cysts develop in both kidneys. The cysts can multiply so much and grow so large that they lead to kidney failure. Treatment for PKD varies — some cases can be managed with dietary changes; others require a kidney transplant or dialysis. Our specialists and surgeons can advise you about what might be the best treatment options for your baby’s condition.

From the PKD Foundation

Prune belly syndrome is a group of birth defects, primarily affecting boys, which can involve problems including weak abdominal muscles, undescended testicles, urinary difficulty and constipation. Lung problems and bone deformities may also be present. Early surgery is recommended to fix these individual problems.

From the U.S. National Library of Medicine's MedlinePlus

Sometimes a child may be born with only one kidney or one working kidney. In general, people with one working kidney go on to lead full, healthy lives. However, the danger of kidney disease is greater, so proper nutrition and blood pressure monitoring will be required.

From the National Institute of Diabetes & Digestive and Kidney Diseases

Urinary tract obstruction (also known as "bladder outlet obstruction" or "BOO") is a blockage at the base of the bladder that can reduce or prevent the flow of urine out of the body. The condition may involve pain, frequent urination or the inability to urinate, and frequent urinary tract infections. For many children, medicine or the insertion of a tube called a "catheter" is all that's required. Others may need surgery.

From the U.S. National Library of Medicine's MedlinePlus

Vesicoureteral reflux (VUR) is the abnormal flow of urine from the bladder back into the ureters and sometimes to the kidneys. Depending on the severity of the vesicoureteral reflux in your baby, Nemours urologists may discuss several treatment options, including antibiotics to prevent infections, surgery to repair the ureters, or an endoscopic procedure using a small telescope.Learn More About Vesicoureteral Reflux »